Canonical Allele Identifier: CA344004360
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196964851A>C (hg19) chr1:g.196995721A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995721A>C , CM000663.2:g.196995721A>C GRCh38
NC_000001.10:g.196964851A>C , CM000663.1:g.196964851A>C GRCh37
NC_000001.9:g.195231474A>C NCBI36
NG_016365.1:g.23185A>C , LRG_227:g.23185A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.357A>C ENSP00000514393.1:p.Gln119His
ENST00000699467.1:n.681A>C
ENST00000699468.1:c.-24-393A>C ENSP00000514394.1:n.-24-393A>C
ENST00000256785.5:c.612A>C MANE Select ENSP00000256785.4:p.Gln204His
ENST00000256785.4:c.612A>C ENSP00000256785.4:p.Gln204His
NM_030787.3:c.612A>C , LRG_227t1:c.612A>C NP_110414.1:p.Gln204His
XM_011510020.1:c.621A>C XP_011508322.1:p.Gln207His
XM_011510020.2:c.621A>C XP_011508322.1:p.Gln207His
NM_030787.4:c.612A>C MANE Select NP_110414.1:p.Gln204His
Search 100 bp 5'
Search 100 bp 3'